Del inicio de una epilepsia parcial continua al diagnóstico y tratamiento del síndrome de Rasmussen / From the beginning of a continuous partial epilepsy to the diagnosis and treatment of Rasmussen's syndrome

La epilepsia parcial continua es una forma de estatus epiléptico parcial, que se caracteriza por la presencia de mioclonías repetidas que afectan a un grupo muscular. Su origen es cortical y pueden prolongarse durante horas, días, semanas y excepcionalmente años. Dentro de estas formas de epilepsia podemos diferenciar 2 grupos: el primer grupo o síndrome de Kojewnikow clásico, comprende a niños con una lesión conocida en la región rolándica (cuya etiología es también conocida) y existe un daño neurológico estable (salvo si la lesión aumenta, como por ejemplo, los tumores). Consiste en la presencia de crisis parciales motoras, a veces seguidas por períodos de mioclonías bien localizadas. El segundo grupo o síndrome de Rasmussen se caracteriza por inicio de crisis en pacientes previamente sanos, comenzando con crisis parciales motoras a las cuales rápidamente se asocian mioclonías que pueden afectar distintas zonas corporales. La evolución es progresiva, con deterioro neurológico. Describimos el caso de un niño de 7 años de edad estudiado por crisis convulsivas parciales y degeneración progresiva de funciones superiores. Se le practican estudios de imagen, neurofisiológicos y pruebas de laboratorio, siendo diagnosticado de síndrome de Rasmussen. Finalmente, se le realiza una hemisferectomía paliativa, confirmándose el diagnóstico de encefalitis de Rasmussen mediante biopsia(AU)

Continuous partial epilepsy is a form of partial status epilepticus, which is characterized by the presence of repeated myoclonus affecting a muscle group. Its origin is cortical and it can last for hours, days, weeks and exceptionally, years. Within these forms of epilepsy we can distinguish two groups: the first group or Kojewnikow classic syndrome includes children with a known lesion in the rolandic region (the etiology is also known) and there is a stable neurological damage (unless the injury increases, e.g., tumors). This disease is characterized by the presence of motor partial seizures, sometimes they are followed by periods of well-localized myoclonus. The second group or Rasmussen syndrome is characterized by onset of seizures in previously healthy patients, starting with partial motor seizures, that later can be combined with myoclonus that affect different areas of the body. It is a progressive disease that leads to neurological damage. A case is presented of a 7-year-old patient investigated due to having partial seizures and progressive neurological degeneration. After performing imaging studies, neuropsychological studies, and laboratory tests, he was diagnosed with Rasmussen's syndrome. Finally, a palliative hemispherectomy was performed and the diagnosis was confirmed by a biopsy(AU)

[From the beginning of a continuous partial epilepsy to the diagnosis and treatment of Rasmussen's syndrome]. / Del inicio de una epilepsia parcial continua al diagnóstico y tratamiento del síndrome de Rasmussen.

Continuous partial epilepsy is a form of partial status epilepticus, which is characterized by the presence of repeated myoclonus affecting a muscle group. Its origin is cortical and it can last for hours, days, weeks and exceptionally, years. Within these forms of epilepsy we can distinguish two groups: the first group or Kojewnikow classic syndrome includes children with a known lesion in the rolandic region (the etiology is also known) and there is a stable neurological damage (unless the injury increases, e.g., tumors). This disease is characterized by the presence of motor partial seizures, sometimes they are followed by periods of well-localized myoclonus. The second group or Rasmussen syndrome is characterized by onset of seizures in previously healthy patients, starting with partial motor seizures, that later can be combined with myoclonus that affect different areas of the body. It is a progressive disease that leads to neurological damage. A case is presented of a 7-year-old patient investigated due to having partial seizures and progressive neurological degeneration. After performing imaging studies, neuropsychological studies, and laboratory tests, he was diagnosed with Rasmussen's syndrome. Finally, a palliative hemispherectomy was performed and the diagnosis was confirmed by a biopsy.

[Conradi-Hünermann Chondrodysplasia punctata: anaesthetic implications]. / Condrodisplasia punctata de Conradi-Hünermann: implicaciones anestésicas.

Chondrodysplasia punctata syndrome is a group of rare congenital diseases that give rise to malformations, mainly skeletal, linked to the premature calcification of structures. There is little in the literature in the field of Anaesthesiology on this despite there being some clinical manifestations, particularly the possibility of difficult airway, which may be of importance during the peri-operative period. During the first years of life, the patients affected are often subjected to repeated surgery to correct their malformations. We describe the anaesthetic treatment during orthopaedic surgery of a paediatric patient with Conradi-Hünermann type chondrodysplasia punctata, highlighting the managementof the airway using a laryngeal mask in combination with balanced general anaesthesia with remifentanil. We also present a review of the characteristics of the different entities of these syndromes, with special emphasis on the aspects most relevant to the anaesthesiologist.

Condrodisplasia punctata de Conradi-Hünermann: implicaciones anestésicas / Conradi-Hünermann Chondrodysplasia punctata: anaesthetic implications

EL síndrome de condrodisplasia punctata es un grupo de enfermedades congénitas raras que dan lugar a malformaciones, fundamentalmente esqueléticas, vinculadas con la calcificación prematura de estructuras. Existe escasa bibliografía en el ámbito de la anestesiología, pese a que algunas de sus manifestaciones clínicas, especialmente la posibilidad de una vía aérea difícil, pueden tener relevancia durante el perioperatorio. Los pacientes afectos, durante los primeros años de vida, se verán frecuentemente sometidos a cirugías frecuentes para corrección de sus malformaciones. Presentamos el tratamiento anestésico durante una intervención quirúrgica ortopédica de un paciente pediátrico afecto de una condrodisplasia punctata tipo Conradi-Hünnermann. Se destaca el tratamiento de la vía aérea mediante una mascarilla laríngea en combinación con una anestesia general balanceada con remifentanilo. Asimismo presentamos una síntesis de las características de diversas entidades de estos síndromes, con especial énfasis en los aspectos más relevantes para el anestesiólogo(AU)

Chondrodysplasia punctata syndrome is a group of rare congenital diseases that give rise to malformations, mainly skeletal, linked to the premature calcification of structures. There is little in the literature in the field of Anaesthesiology on this despite there being some clinical manifestations, particularly the possibility of difficult airway, which may be of importance during the peri-operative period. During the first years of life, the patients affected are often subjected to repeated surgery to correct their malformations. We describe the anaesthetic treatment during orthopaedic surgery of a paediatric patient with Conradi-Hünermann type chondrodysplasia punctata, highlighting the management of the airway using a laryngeal mask in combination with balanced general anaesthesia with remifentanil. We also present a review of the characteristics of the different entities of these syndromes, with special emphasis on the aspects most relevant to the anaesthesiologist(AU)